Varaico: Literature-Extracted Genetic Variants

Gene:CACNB2
Variant:p.A481V
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CACNB2

NM_201596.3:p.A481V

Associated Papers

Epigenetic mechanism of L-type calcium channel β-subunit downregulation in short QT human induced pluripotent stem cell-derived cardiomyocytes with CACNB2 mutation.

Zhong R et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2022

Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.

Zhang Q et al.

Channels (austin, Tex.), 2018

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.

Antzelevitch C et al.

Circulation, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."